摘要
目的分析导致儿童耳聋常见的致病基因,探讨基因检测对于预防遗传性耳聋的意义。方法对93例耳聋患儿及其父母159人进行病史采集和听力学检查,采用遗传性耳聋基因芯片诊断试剂盒对GJB2、SLC26A4、GJB3和线粒体12S rRNA四个耳聋相关基因的9个致聋突变位点进行检测。结果①在耳聋患者中,检测出的遗传性耳聋比率为45.2%,其中GJB2、SLC26A4、线粒体12S rRNA和GJB3致病突变的携带率分别为22.6%、21.5%、0%和1.1%。②在耳聋患者的父母中,检测出遗传性耳聋致病基因总携带率为34.6%,其中GJB2、SLC26A4、线粒体12S rRNA和GJB3致病突变的携带率分别为20.1%、14.5%、0%和0%。结论①本次检测结果表明,遗传因素是儿童耳聋的重要致病原因,GJB2和SLC26A4是两个主要的致病基因。②耳聋患者的父母携带耳聋致病基因者的比例很高,家族内的其他亲属也为高危人群。基因检测不仅可以明确病因,而且可以发现耳聋高危人群,并为这一群体提供遗传咨询和预防所需的基本遗传信息。③基因检测对耳聋的预防和病因诊断具有重要的指导意义。
Objective To investigate the molecular etiologic causes of hearing loss in children and to discuss the importance of genetic diagnosis in prevention of hereditary hearing loss.Methods 93 hearing loss children and their parents were performed microarray-based mutation detection for nine mutations in four genes(GJB2 SLC26A4 GJB3 and 12s rRNA).Results The incidence of genetic causes was 45.2%.Among them, 22.6%of cases were caused by GJB2 mutations,21.5%by SLC26A4 mutations,and 1.1%by GJB3 mutations.12s rRNA mutations were not found in this group of patients.The total carrier rate of genetic mutations was 34.6% in the parents.20.1%and 14.5%of parents carried GJB2 and SLC26A4 mutations,respectively.Conclusion Our results demonstrated that genetic factors were important causes for hearing loss in children.Mutations of GJB2 and SLC26A4 are two major causes for genetic hearing loss.The carrier frequency of genetic mutation was very high in the parents;therefore,other family members are also at high risk of being a carrier.Not only can genetic diagnosis clarify the causes of hearing loss,but also can identify the group of people at high risk and provide the basic information for genetic counseling and prevention.Genetic testing is a helpful and instructural strategy in the prevention and diagnosis for hearing loss.
出处
《残疾人研究》
2011年第1期32-36,共5页
Disability Research
基金
国家社会科学基金重大项目:中国残疾预防对策研究(09&ZD072)
"十一五"国家科技支撑计划项目:聋儿认知规律与康复技术规范化研究(2008BAI50B01)
关键词
耳聋
基因诊断
基因突变检测芯片
预防
Hearing loss
Genetic diagnosis
Microarray-based mutation detection
Prevention
